Abstract The biochemical defect in thalassemia is thought to consist of a diminished capacity of the erythropoietic cells to synthesize one of the polypeptide chains of hemoglobin. Thus, the common variants of this disease have been designated as αand β-thalassemia. β-Thalassemia is usually associated with a twofold increased proportion of hemoglobin A2 and a slight elevation of fetal hemoglobin (hemoglobin F) in hemolysates, but many families have been described in which the hemoglobin abnormality is characterized by low or normal levels of hemoglobin A2 and high concentrations of hemoglobin F (10% to 30%). This variant of the disease has been designated as F-thalassemia or βδ-thalassemia since the synthesis of both β- and δ-chains appears to be impaired. The distribution of hemoglobin F in the erythrocyte population is uneven in contrast to the hereditary persistence of fetal hemoglobin (HPFH) in which all erythrocytes appear to have the same concentration of hemoglobin References 1. Malamos B, Fessas P, Stamatoyannopoulos G: Types of thalassemia-trait carriers as revealed by a study of their incidence in Greece. Brit J Haemat 8:5-14, 1962.Crossref 2. Stamatoyannopoulos G, Papayannopoulou T, Fessas P, et al: The beta-delta thalassemias. Ann NY Acad Sci 165:25-36, 1969.Crossref 3. Silvestroni E, Bianco I, Reitano G: Three cases of homozygous βδ-thalassemia (or microcythaemia) with high haemoglobin F in a Sicilian family. Acta Haemat 40:220-229, 1968.Crossref 4. Brancati C, Baglioni C: Homozygous βδ thalassemia (βδ microcythaemia). Nature 212:262-264, 1966.Crossref 5. Aksoy M, Erdem S: Some problems of hemoglobin patterns in different thalassemic syndromes showing the heterogeneity of betathalassemia genes. 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Archives of Internal Medicine – American Medical Association
Published: Jun 1, 1972